| Metadata | |
|---|---|
| ID | DOID:0111986 |
| Name | immunodeficiency 32A |
| Definition | A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. https://pubmed.ncbi.nlm.nih.gov/21524210/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
IMD32A [EXACT] immunodeficiency 32A, mycobacteriosis, autosomal dominant [EXACT] Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency [EXACT] Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency [EXACT] MSMD due to partial interferon regulatory factor 8 deficiency [EXACT] MSMD due to partial IRF8 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |